Archive for the ‘epigenetics’ Category

“You only see what you look for…and only look for what you know.” An axiom from medical school, often attributed to William Osler, though not confirmed. Nevertheless, an important aphorism in how we understand and put together the collection of symptoms presenting in clinic, particularly in the case of pyroluria.

I hadn’t heard of pyrroles until well past my formal education, when I started to unearth the orthomolecular medicine archives and explore that body of literature buried in the annals of nutritional interventions (the intervention likely the real reason why it isn’t so readily recognized in the mainstream medical community).

So what is pyroluria?

Pyrolouria is a genetic blood disorder having to do with the synthesis of red blood cells. During the production of hemoglobin, hydroxyhemoppyrrolin-2-one (HPL) is formed as a byproduct. In most people, this “harmless” byproduct is easily excreted through the urine. However, in some, the levels of HPL accumulate too quickly to be excreted efficiently. Pyrroles have a very high affinity for zinc and B6 (and also block the receptor sites for these two nutrients); as the excess pyrroles are excreted, they take with them these two vital nutrients, leading to zinc and B6 deficiency states. Zinc has many functions, including in the immune system, gut integrity, and neurotransmitter synthesis; among other things, B6 is essential for the synthesis of serotonin, dopamine and GABA. So as these nutrients dwindle, emotional and physical repercussion potentially crescendo.

The true etiology is unknown, but pyroluria appears to be a genetic condition as it does tend to run in families. However, it might also be thought of as more of an epigenetic phenomenon, as there is some evidence that it gets “activated” with trauma or infection or another environmental insult early in life. More on epigenetics will be written in a future post, but the gist is that epigenetics is the science of gene regulation- how our inherited genes get turned on and off.

It’s estimated that approximately 11% of people in the general population have pyroluria, often being referred to in functional medicine as the most common unknown disorder. When you look at the psychiatric community, the incidence skyrockets (shown below in percentage with elevated pyrroles):*

71% in Down’s syndrome,

59-80% in acute schizophrenia

40-50% in chronic schizophrenia

47-50% in manic depression/Bipolar

12-46% in major depression

46-48% in autism

40-47% in ADHD/ADD

40-47% in learning disabilities

20-84% in alcoholism

71% in acute onset adult ciminal behaviors

33% in young violent offenders

The common symptoms are (incomplete list):

very poor stress tolerance

white spots on finger nails (from zinc deficiency)

sensitivity to bright lights

sensitivity to loud noises

skin sensitivities (tags on shirts, textures/materials)

abnormal fat distribution (large middle, skinny arms/legs)

irritable bowel syndrome

abdominal/splenic area pain

delayed onset of puberty (late bloomer, growth after 16years of age)

irregular periods/menstrual cycles

pale skin

tendency to burn (instead of tan)

overcrowded teeth/poor tooth enamel

joint pains (cold hands/feet, creaky knees)

anxiety

social isolation/withdrawal

mood swings/irritability/explosive anger/tantrums

depression

disorganization

history of reading disorder

focus/concentration difficulties

motion sickness

auditory processing disorders

poor short term-memory/poor dream recall

insomnia

fatigue

hyperactivity/ADHD symptoms

craving for sugar/carbs

carving for spicy/salty foods

poor morning appetite/morning nausea

frequent infections

impotence

glucose intolerance

sweet or fruity body odor or breath

paranoia/hallucinations

seizures

very dry skin

psoriasis

tendency to stay up late at night/night owl.

And of course, with deficient zinc, free copper levels might escalate with the ensuing problems of high anxiety, poor concentration, tinnitus, explosive anger, and estrogen intolerance. As you can see from the list, these symptoms are very common to many disorders, so this condition is frequently diagnosed as ADHD, Bipolar Disorder, learning disorders, intermittent explosive disorder, etc, with the ensuing treatments for those disorders being put in place without replacing the essential micronutrients.

Diagnosis is typically clinical with substantiation through urinary kryptopyrrole testing. It will be important to measure zinc, copper and ceruloplasmin as well to understand the degree of zinc deficiency and free copper excess so that the appropriate interventions can be made. Treatment is largely based on replacing the deficient nutrients of B6 and Zinc, but is also dependent on multiple other factors that generally require a health care professional to supervise.

Until we know what to look for, pyroluria will remain a largely unrecognized, and therefore untreated illness masquerading as (and exacerbating) the sundry other psychiatric ailments.

SEARCH

Subscribe via Email

Enter your email address to subscribe to this blog and receive notifications of new posts by email.

ABOUT THIS SITE

I am a practicing child/adolescent/adult psychiatrist in Tennessee. This site is about exploring integrative mental health care. It is not, as the title might imply, a polemic against medication use, as there is absolutely a role for psychopharmacology. Rather, it is about alternative ways to approach illness that might be safer, cheaper, and potentially healthier first steps. I intend to share information that I find interesting, essential, and hopeful as a psychiatrist, parent, and citizen-consumer. This information is for educational purposes only, and should not be used as personal medical advice.